Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification

Rutsch, Frank; Schauerte, P; Kalhoff, H.; Petrarulo, Michele; August, Christian; Diekmann, L

doi:10.1080/080352500750027682

Cited by 23 publications

(22 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Affected patients frequently die within the first weeks of life as the result of heart failure and myocardial infarction. 147,148 Based on the observation that an affected child had a systemic deficiency of PP i , 146 we found decreased plasma levels of the PP i generating enzyme ENPP1. 149 In a candidate gene approach, we identified homozygosity or compound heterozygosity for “loss of function” mutations in ENPP1 as the cause for this rare disorder.…”

Section: B Specific Methods To Identify Genetic Factors Contributingmentioning

confidence: 90%

“…208000, calcification of the internal elastic lamina is associated with myointimal proliferation in medium and large-sized arteries (Figure 2). 146 The disease phenotype is often associated with periarticular calcification (Figure 2). Affected patients frequently die within the first weeks of life as the result of heart failure and myocardial infarction.…”

Section: B Specific Methods To Identify Genetic Factors Contributingmentioning

confidence: 99%

See 1 more Smart Citation

Genetics in Arterial Calcification

Rutsch

Nitschke

Terkeltaub

2011

Circulation Research

160

103

View full text Add to dashboard Cite

Artery calcification reflects an admixture of factors such as ectopic osteochondral differentiation with primary host pathological conditions. We review how genetic factors, as identified by human genome-wide association studies, and incomplete correlations with various mouse studies, including knockout and strain analyses, fit into “pieces of the puzzle” in intimal calcification in human atherosclerosis, and artery tunica media calcification in aging, diabetes mellitus, and chronic kidney disease. We also describe in sharp contrast how ENPP1, CD73, and ABCC6 serve as “cogs in a wheel” of arterial calcification. Specifically, each is a minor component in the function of a much larger network of factors that exert balanced effects to promote and suppress arterial calcification. For the network to normally suppress spontaneous arterial calcification, the “cogs” ENPP1, CD73, and ABCC6 must be present and in working order. Monogenic ENPP1, CD73, and ABCC6 deficiencies each drive a molecular pathophysiology of closely related but phenotypically different diseases (generalized arterial calcification of infancy (GACI), pseudoxan-thoma elasticum (PXE) and arterial calcification caused by CD73 deficiency (ACDC)), in which premature onset arterial calcification is a prominent but not the sole feature.

show abstract

Section: B Specific Methods To Identify Genetic Factors Contributingmentioning

confidence: 90%

Section: B Specific Methods To Identify Genetic Factors Contributingmentioning

confidence: 99%

Genetics in Arterial Calcification

Rutsch

Nitschke

Terkeltaub

2011

Circulation Research

160

103

View full text Add to dashboard Cite

show abstract

“…Death is most commonly due to cardiac ischemia secondary to coronary artery involvement3, 9. As the prognosis is extremely poor, with a fatal outcome likely, medical treatment using bisphosphonates is usually unsuccessful9, 12, 14. In conclusion, increased echogenicity of the fetal vasculature should alert the sonologist to this fatal condition, which can facilitate early diagnosis and further planning of management.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis

Nasrallah¹,

Baho²,

Sallout³

et al. 2009

Ultrasound in Obstet & Gyne

View full text Add to dashboard Cite

show abstract

“…Diagnosis can be made by recognition of arterial calcification on chest or abdominal roentgenograms in infancy. Soft tissue calcification, especially peri‐articular, is an associated feature [Rutsch et al, 2000]. Ultrasound can also effectively establish the diagnosis because of its high sensitivity to detect arterial wall calcification [Pao et al, 1998] and a few patients subsequent to index cases have been diagnosed prenatally by ultrasound [Hajdu et al, 1998; Eronen et al, 2001].…”

Section: Discussionmentioning

confidence: 99%

Generalized arterial calcification of infancy: Different clinical courses in two affected siblings

Cheng

Chen

Ruf

et al. 2005

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Generalized arterial calcification of infancy (GACI) is a rare autosomal recessive disease caused by mutations in ENPP1. Due to extensive calcification of the arterial media associated with intimal proliferation leading to vascular occlusion, most affected children die within the first 6 months of life. We report on two Taiwanese siblings with an identical genotype, but different clinical course. The male sibling developed heart failure and severe hypertension, and died at the age of 6 weeks despite of treatment with bisphosphonates, ACE inhibitors, and hydralazine. The subsequent female, who was monitored closely pre- and post-natally, is having an uncomplicated clinical course up to the age of 1(1/2) year now. There were similar characteristic sonographic and roentgenographic findings in both siblings in early infancy. In both siblings, the same compound heterozygous mutations (c.1025G > T [p.Gly342Val] and c.1112A > T [Tyr371Phe]) in ENPP1 were identified. Despite the same genotype and similar sonographic and radiographic features in early infancy, the phenotype of GACI can vary to a great extent within one family.

show abstract

Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification

Cited by 23 publications

References 11 publications

Genetics in Arterial Calcification

Genetics in Arterial Calcification

Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis

Generalized arterial calcification of infancy: Different clinical courses in two affected siblings

Contact Info

Product

Resources

About